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Disease Information for Bowen Conradi/Bowen Hutterite Syndrome

Clinical Manifestations

Signs & Symptoms

Particular physiognomy/Odd looking kids

Congenital facial deformities

Craniofacial Abnormalities/Congenital

Low birth weight/newborn/SGA/Small for gestational age

Anorexia in Infant

Failure to Thrive

Failure to Thrive Child

Failure to thrive/infant sign

Feeding/Apetite Problems Child

Digital deformities/symmetric

Deformed hand/digits

Foot deformity

Incurved/fifth fingers

Snoring

Growth/development delay

Clinical Presentation & Variations

Presentation/Multiple deformities newborn (odd look)

Demographics & Risk Factors

Population Group

Child

Population/Pediatrics population

Sex & Age Groups

Population/Child

Population/Children/all

Population/Infant

Population/Neonate-newborn

Associated Diseases & Rule outs

Associated Disease & Complications

Clubbed foot/congenital

Congenital urinary tract malformations

Cryptorchidism

Facial dysplasia

Limb deformities/anomalies

Neonatal Erythroderma

Disease Mechanism & Classification

Process

PROCESS/Autosomal recessive disorder (ex)

PROCESS/Congenital/developmental (category)

PROCESS/Hereditofamilial (category)

PROCESS/Anomalies/Deformities/Malformations (EX)

PROCESS/Dystostosis/craniofacial (ex)

Definition

Bowen Hutterite Syndrome; Bowen-Conradi Hutterite Syndrome;

Bowen-Conradi Syndrome; Hutterite Syndrome; Bowen-Conradi Type; Bowen Hutterite syndrome is a rare genetic disorder that is apparent at birth (congenital); The disorder is characterized by growth delays before birth (intrauterine growth retardation); failure to grow and gain weight at the expected rate (failure to thrive) during infancy; malformations of the head and facial (craniofacial) area, resulting in a distinctive appearance; and other physical abnormalities; These may include restricted joint movements, abnormal deviation (clinodactyly) or permanent flexion (camptodactyly) of the fifth fingers, foot deformities, and/or undescended testes (cryptorchidism) in affected males; Some affected infants may also have kidney (renal), brain, and/or other malformations; Bowen Hutterite syndrome is inherited as an autosomal recessive trait---------------[NORD 2005]----------------------

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External Links Related to Bowen Conradi/Bowen Hutterite Syndrome

PubMed (National Library of Medicine)

NGC (National Guideline Clearinghouse)

Medscape (eMedicine)

Harrison's Online (accessmedicine)

NEJM (The New England Journal of Medicine)

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